Paralogue Annotation for RYR1 residue 127

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 127
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 127

No paralogue variants have been mapped to residue 127 for RYR1.

RYR1	HRTLLYGHAILLRHAHSRMYLSCLTTSRSM>T<DKLAFDVGLQEDATGEACWWTMHPASKQRS	157
RYR2	HRTLLYGHAILLRHSYSGMYLCCLSTSRSS>T<DKLAFDVGLQEDTTGEACWWTIHPASKQRS	170
RYR3	HRTLLYGHAVLLRHSFSGMYLTCLTTSRSQ>T<DKLAFDVGLREHATGEACWWTIHPASKQRS	160
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T127I	c.380C>T	Putative Benign			SIFT: Polyphen: